Clinical guidelines for the diagnosis and treatment of 21-hydroxylase          deficiency (2021 revision)

Ishii, Tomohiro; Kashimada, Kenichi; Amano, Nobuyuki; Takasawa, Kei; Nakamura-Utsunomiya, Akari; Yatsuga, Shuichi; Mukai, Tokuo; Ida, Shinobu; Isobe, Mitsuhisa; Fukushi, Masaru; Satoh, Hiroyuki; Yoshino, K.; Otsuki, Michio; Katabami, Takuyuki; Tajima, Toshihiro

doi:10.1297/cpe.2022-0009

Cited by 15 publications

(74 citation statements)

References 206 publications

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“…This is also supported by the finding of the positive correlation between current age and HC dosage at the 1-year-old evaluation. Consistent with this result, Matsubara et al previously reported that the average dosage of HC at 1 year old fell between 20 and 30 mg/m 2 /day in Japanese patients with 21-OHD who reached at least 15 years old between 1989 and 2008, which was higher than the recommended dosage in the current guidelines published by the Japanese society for pediatric endocrinology [29,30]. In addition, a higher dosage (25-100 mg/m 2 /day) of HC is often used to treat acute adrenal crisis during the neonatal period in Japan [29]; therefore, a higher dosage of HC may be used…”

Section: Discussionsupporting

confidence: 52%

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Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency

et al. 2023

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Obesity is a major complication in children with 21-hydroxylase deficiency (21-OHD). There is evidence to show that higher body mass index (BMI) during infancy and early childhood is associated with an increased risk for the subsequent development of obesity in the general population; however, limited information is currently available on this issue in 21-OHD patients. Additionally, despite the frequent use of supraphysiological dosages of hydrocortisone in 21-OHD, the association between BMI and hydrocortisone dosage during these periods remains largely unclear; therefore, we retrospectively investigated BMI at approximately 1 and 3 years old and its association with hydrocortisone dosage in 56 children with 21-OHD. The median BMI-standard deviation score (SDS) was 0.28 (Interquartile range [IQR]: -0.53 to 1.09) and 0.39 (IQR: -0.44 to 1.14) at approximately 1 and 3 years old, respectively, and no association was observed between hydrocortisone dosage and BMI-SDS at either time-point; however, multivariate analysis revealed that hydrocortisone dosage at approximately 1 year old was positively associated with changes in BMI (β = 0.57, p = 0.013) and BMI-SDS (β = 0.59, p = 0.011) between approximately 1 and 3 years old after adjustment for age, sex, and changes in hydrocortisone dosage during the same period. The average dosage of hydrocortisone between approximately 6 months and 1 year old also showed similar results. These results indicate that a higher dosage of hydrocortisone during late infancy is associated with a higher BMI at approximately 3 years old, which may lead to the development of obesity later in life in children with 21-OHD.

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Section: Discussionsupporting

confidence: 52%

“…A major limitation of this study is that the dosage of HC at the 1-year-old evaluation (19.8-34.3 mg/m 2 /day) was much higher than the recommended HC dosage (10-15 mg/m 2 /day) in the current guidelines [26,29]. This was probably due to the inclusion of older subjects in this study, because a higher dosage of HC had previously been used.…”

Section: Discussionmentioning

confidence: 81%

Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency

et al. 2023

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“…Because patients with classical 21-OHD require lifelong steroid replacement, it requires management for each stage of life. Undertreatment leads to adrenal insufficiency and hyperandrogenism, reducing adult height because of premature induction of puberty, while overtreatment leads to obesity and Cushing syndrome and inhibits growth ( 9 ). Therefore, it is crucial to control the treatment.…”

Section: Healthcare Transition Of Patients With 21-hydroxylase Defici...mentioning

confidence: 99%

“…Therefore, it is crucial to control the treatment. Practical administration should be individually dependent on the patient’s condition and age ( 9 ). During the pediatric period, the main targets for treatment are normal physical growth, normal sexual development, and avoidance of an adrenal crisis.…”

Section: Healthcare Transition Of Patients With 21-hydroxylase Defici...mentioning

confidence: 99%

Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan

Takasawa

Kashimada

2022

Front. Pediatr.

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The transition of patients with childhood-onset chronic diseases from pediatric to adult healthcare systems has recently received significant attention. Since 2013, the Japan Pediatric Society developed working groups to formulate guidelines for transition of patients with childhood-onset chronic diseases from pediatric to their disease specialty. Herein, we report on the activities of the Japan Society of Pediatric Endocrinology (JSPE) and the current status of transition medicine for 21-hydroxylase deficiency (21-OHD) in Japan. The JSPE proposed roadmaps and checklists for transition and prepared surveys on the current status of healthcare transition for childhood-onset endocrine diseases. In Japan, newborn screening for 21-OHD started in January 1989; however, there is no nationwide registry-based longitudinal cohort study on 21-OHD from birth to adult. The current status and the whole picture of healthcare and health problems in adult patients with 21-OHD remain unclear. Thus, we conducted a questionnaire survey on JSPE members to clarify the current status of healthcare transition of 21-OHD and discuss future perspectives for the healthcare transition of patients with 21-OHD in Japan.

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“…On the other hand, many challenges related to treatment remain. Managing patients with 21-OHD using glucocorticoids (GCs) is not optimal, and additional treatments have been proposed (3)(4)(5), such as the androgen antagonist, flutamide; the aromatase inhibitor, testolactone; the P450c17 inhibitor, abiraterone acetate (6,7); the corticotropinreleasing factors, receptor 1 antagonist crinecerfont (8,9) and tildacerfont (10); ACTH antagonists (11,12); and melanocortin type 2 receptor antagonist (13,14).…”

Section: Introductionmentioning

confidence: 99%

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

Itonaga

Hasegawa²

2023

Front. Endocrinol.

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21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period. In addition, recent advances in genetic testing have facilitated diagnosing 21-OHD, particularly in patients with equivocal clinical information. On the other hand, many challenges related to treatment remain. The goals of glucocorticoid therapy for childhood 21-OHD are to maintain growth and maturation as in healthy children by compensating for cortisol deficiency and suppressing excess adrenal androgen production. It is not easy to calibrate the glucocorticoid dosage accurately for patients with 21-OHD. Auxological data, such as height, body weight, and bone age, are considered the gold standard for monitoring of 21-OHD, particularly in prepuberty. However, these data require months to a year to evaluate. Theoretically, biochemical monitoring using steroid metabolites allows a much shorter monitoring period (hours to days). However, there are many unsolved problems in the clinical setting. For example, many steroid metabolites are affected by the circadian rhythm and timing of medication. There is still a paucity of evidence for the utility of biochemical monitoring. In the present review, we have attempted to clarify the knowns and unknowns about treatment parameters in 21-OHD during childhood.

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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Cited by 15 publications

References 206 publications

Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency

Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency

Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

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